Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Cancer Gene Therapy Group, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
PLoS One. 2018 Oct 3;13(10):e0205000. doi: 10.1371/journal.pone.0205000. eCollection 2018.
Ovarian cancer is a heterogeneous disease. Data regarding familial risks for specific proband, age at diagnosis and histology are limited. Such data can assist genetic counseling and help elucidate etiologic differences among various histologic types of ovarian malignancies. By using the Swedish Family-Cancer Database, we calculated relative risks (RRs) for detailed family histories using a two-way comparison, which implied e.g. estimation of RRs for overall ovarian cancer when family history was histology-specific ovarian cancer, and conversely, RRs for histology-specific ovarian cancer when family history was overall ovarian cancer. In families of only mother, only sisters or both mother and sisters diagnosed with ovarian cancer, cancer risks for ovary were 2.40, 2.59 and 10.40, respectively; and were higher for cases diagnosed before the age of 50 years. All histological types showed a familial risk in two-way analyses, except mucinous and sex cord-stromal tumors. RRs for concordant histology were found for serous (2.47), endometrioid (3.59) and mucinous ovarian cancers (6.91). Concordant familial risks were highest for mucinous cancer; for others, some discordant associations, such as endometrioid-undifferentiated (9.27) and serous-undifferentiated (4.80), showed the highest RRs. Familial risks are high for early-onset patients and for those with multiple affected relatives. Sharing of different histological types of ovarian cancer is likely an indication of the complexity of the underlying mechanisms.
卵巢癌是一种异质性疾病。关于特定先证者、诊断时的年龄和组织学的家族风险的数据有限。这些数据可以辅助遗传咨询，并有助于阐明各种卵巢恶性肿瘤组织学类型之间的病因差异。我们使用瑞典家族癌症数据库，通过双向比较计算了详细家族史的相对风险 (RR)，例如，当家族史为特定组织学的卵巢癌时，估计总体卵巢癌的 RR，反之，当家族史为总体卵巢癌时，估计特定组织学的卵巢癌的 RR。在仅母亲、仅姐妹或母亲和姐妹均被诊断患有卵巢癌的家庭中，卵巢癌的风险分别为 2.40、2.59 和 10.40；50 岁前诊断的病例风险更高。除黏液性和性索-间质肿瘤外，所有组织学类型在双向分析中均显示出家族风险。在浆液性 (2.47)、子宫内膜样 (3.59) 和黏液性卵巢癌中发现了一致组织学的 RR。在一致性家族风险中，黏液性癌最高；对于其他类型，如子宫内膜样-未分化 (9.27) 和浆液性-未分化 (4.80)，则显示出最高的 RR。家族风险对于早发性患者和有多个受累亲属的患者较高。不同组织学类型的卵巢癌的共享可能表明潜在机制的复杂性。
